A neonatal girl with overextended knees admitted to NICU of our hospital was diagnosed as cri du chat (cat cry) syndrome.We collected 34 cases of cri du chat reported in journals since 2000,the clinical features of total 35 cases were retrospectively analyzed.Among 35 cases 12 were boys and 23 girls.The most common clinical manifestations were characteristic face features(100％),difficult feeding(100％) and typical sound of cry(94％).The main complains at hospital visit were typical cry,difficult feeding and cyanosis in the neonatal period,while in childhood period were recurrent respiratory infection,developmental retardation and other abnormalities.Most cases were diagnosed in the neonatal phase,while 85.3％ were in the first year.The diagnosis was based on karyotype analysis; chromosome 5 short arm deletion (5P-) was the most significant genetic variation and clinical features were associated with the position of deletion.

Objective To analyze the clinical characteristics of childhood systemic lupus erythematosus (SLE) patients with severe gastrointestinal manifestations,especially cases with acute and severe abdominal pain,so as to improve the recognition of severe and acute gastrointestinal manifestations of SLE during pediatric diagnosis and treatment.Methods Medical records of 119 patients with SLE under the age 16 years old in Peking Union Medical College Hospital from Jan.2010 to Mar.2013 were reviewed and gastrointestinal manifestations were retrospectively analyzed.All patients were diagnosed as SLE according to 1997 American College of Rheumatology (ACR) revised classification criteria.Results Gastrointestinal involvement was recorded in 24 children (20.2％).The median (range) age at the time of initial gastrointestinal manifestations was (13.5 ± 2.0) years (6-15 years).The ratio of female to male was 1.0 ∶ 2.4.And in 4 cases,gastrointestinal manifestations occurred as the initial symptoms.Abdominal pain was the most frequent symptom,present in 13 patients (54.2％),11 cases (45.8％) had nausea and vomiting,4 cases (16.6％) had abdominal distension,and 3 cases (12.5％) had diarrhea.Abnormal liver function was found by lab test in 8 cases,without obvious symptoms or the proofs of any virus infection.Acute and severe abdominal pain was found in 9 cases,of whom 6 patients were diagnosed as intestinal pseudo-obstruction (2 cases with bilateral ureterohydronephrosis),1 case had acute peritonitis with surgery,1 case was diagnosed as protein losing enteropathy and 1 case had acute pancreatitis.Liver impairment also occurred in SLE.All cases got alleviated with the treatment of steroids and immunosuppressive drugs.Significant difference was found in the occurrence of hydroureter and hydronephrosis and albumin concentrations between SLE digestive and non-digestive system involvement children.However,there was no remarkable difference in the erythrocyte sedimentation rate,or the involvement of kidney and blood system and central nervous system between the 2 groups.Conclusions SLE is a common autoimmune disease in children involving multiple systems.The severity of gastrointestinal involvement is underestimated.Gastrointestinal manifestations can be initial symptoms of SLE.Intestinal pseudo-obstruction,protein losing enteropathy,and acute pancreatitis are uncommon but severe gastrointestinal manifestations of SLE patients should be fully recognized.It is vital for pediatric physicians to make early diagnosis and begin timely treatment on SLE with Corticosteroid and cyclophosphamide.

[Summary] The relationship between the state of cognition and hypertension in 155 type 2 diabetic patients was studied.The results showed that significant difference in the state of cognition was found in patients with or without hypertension,so as to those with poorly or well controlled hypertension (P＜0.05).Systolic blood pressure,pulse pressure,mean arterial blood pressure,and duration of hypertension were negatively correlated with multiple cognitive domains,suggesting that proper control of blood pressure may have a protective effect on cognitive function in type 2 diabetic patients.

Objective To establish a new identification method of Ophiopogonis japonicus from different habitats.Methods Using 1H-NMR to get the all component information on O.japonicus,and using pattern recognitions,such as principal component analysis(PCA),partial least squares-discriiminate analysis(PLS-DA),and hierarchical cluster analysis(HCA) to analyze the data from the 1H-NMR spectra.Results The 1H-NMR-pattern recognition(PR) method could identify the samples of O.japonicus from different habitats successively.Conclusion The 1H-NMR-PR is an useful method for identification of O.japonicus from different habitats and could be used for the quality control of traditional Chinese medicinal materials.

Aim To investigate whether SC58125 synergized with TNF-? to induce HT-29 cell apoptosis and study the possible molecular mechanism. Methods By using MTT, agarose gel electrophoresis and flow cytometry, we examined the effect of SC58125/TNF-? on cell proliferation and apoptosis in HT-29 cells. The activity of caspase-3 and the changes of I?B? and NF-?B were also measured after treatment with SC58125 by Electrophoretic mobility shift assay and Western blot. Results Both SC58125 and TNF-? exhibited cytotoxicity, the combination of the two agents significantly reduced HT-29 cell viability in a dose-dependent manner. TNF-?-treated cells showed oligonucleosomal cleavage of genomic DNA. SC58125 significantly enhanced the inhibition of cell proliferation and inducement of cell apoptosis of TNF-?,the apoptotic index was increased from 11.2%?1.1% to 53.9%?2.1%. SC58125/TNF-?-induced apoptosis of HT-29 cells was accompanied by the induction of caspases-3. I?B? levels were substantially decreased after treatment with TNF-? and the degradation of I?B? was almost completely inhibited when SC58125 was added in NF-?B was activated in HT-29 cells after treatment with TNF-?, whereas pretreatment of HT-29 cells with SC58125 for 2 h, TNF-?-induced NF-?B DNA binding was profoundly inhibited. Conclusion SC58125 synergizes with TNF-? to inhibit cell growth and induce apoptosis in HT-29 cells, which may be mediated by activating caspases and preventing degradation of I?B?.

BACKGROUNDTo elucidate relationship between amino acid sequence of non-structural protein 5A (NS5A) and outcome of HCV (1 b) patients after interferon (IFNa) therapy.

METHODSSera of 24 patients were collected before, during and after IFNa therapy. Pretreatment RNA levels and the sequences of HCV NS5A interferon sensitivity determining region (ISDR) were determined. NS5A full-length sequences of 5 HCV isolates from 3 patients with different response types were also analyzed. Phylogenetic tree analysis and protein secondary structure prediction were undertaken.

RESULTSPretreatment RNA levels of sustained response group were significantly lower than that of non-response group and relapse group (4.50X104 copies/ml versus 1.82X107 copies/ml, P < 0.01).ISDR sequences of NS5A from pretreatment sera were compared with HCV-J strain (prototype). Thirteen of 24 isolates were wild type,11 of 24 were intermediate type and none of them was mutant type. 3 of 6 sustained responders were infected with wild-type isolates, the rest with intermediate type isolates. Phylogenetic tree based on NS5A full-length sequences classified 5 isolates with 3 different response types into 3 groups. Non-response isolates belonged to the same group as HCV-J. Secondary structure prediction of 5 isolates revealed significant differences existing in 2 255- 2 289. This region was partly overlapped with PKR-binding domain.

CONCLUSIONSLow HCV RNA levels in serum are associated with favorable outcome of IFNa therapy. ISDR sequence alone could not predict outcome of IFN treatment. Combination of determination of HCV RNA levels in serum with sequence analysis of PKR-binding domain may be helpful in predicting the efficacy of IFN therapy.

Amino Acid Sequence ; Antiviral Agents ; therapeutic use ; Hepacivirus ; drug effects ; genetics ; Hepatitis C, Chronic ; drug therapy ; virology ; Humans ; Interferon-alpha ; therapeutic use ; RNA, Viral ; blood ; Viral Nonstructural Proteins ; genetics

Objective:To compare the short-term outcomes of very low birth weight (VLBW) and extremely low birth weight (ELBW) infants supplementarily fed with fortified donor human milk (DHM) or preterm formula (PF) when the mother's own milk (MOM) is insufficient.Methods:This retrospective cohort study included 91 VLBW or ELBW preterm infants with birth weight<1 500 g who were hospitalized in Peking Union Medical College Hospital from October 1, 2017, to September 30, 2020. Based on the supplemental feeding method when MOM was insufficient, these infants were divided into the DHM group ( n=51) and PF group ( n=40). Mann-Whitney U, t-test, Chi-square test, or Fisher's exact test were used to compare the short-term clinical outcomes during hospitalization between the two groups. Results:(1) There were no statistically significant differences between the 91 preterm infants in the DHM group and PF group in their gestational age, birth weight, sex ratio, birth mode, mothers' age at delivery, or the proportion of infants of small gestational age (all P>0.05). (2) The feeding volume in the DHM group was significantly greater than that in the PF group on the 14th day after birth [(108.2±53.1) vs. (81.0±47.8) ml/(kg·d), t=0.78, P=0.020]. Moreover, the time to achieve the feeding amounts up to 120 ml/(kg·d) and 150 ml/(kg·d) for infants in the DHM group were significantly shorter than those in the PF group [(17.5±10.2) vs. (30.0±12.0) d, t=4.38; (22.1±13.3) vs. (32.3±11.9) d, t=0.02; both P<0.05]; (3) Lower proportion of peripherally inserted central catheter (PICC) [58.8% (30/51) vs. 100% (40/40), χ 2=21.88, P<0.001] and shorter PICC duration were observed in the DHM group [10.0 (0.0-19.0) vs. 29.0 (17.0-40.5) d, Z=5.56, P<0.001] compared to the PF group. The times of red blood cell transfusions and the incidence of late sepsis in the DHM group were less than those in the PF group [0.0 (0.0-2.0) vs. 2.0 (1.0-3.0) times, Z=4.44, P<0.001; 23.5% (12/51) vs. 50.0% (20/40), χ 2=6.39, P=0.011]. There were no statistically significant differences observed in the incidence of bronchopulmonary dysplasia, neonatal necrotizing enterocolitis, retinopathy of prematurity, and the length of hospitalization (all P>0.05). Conclusion:When MOM is insufficient, supplementing VLBW and ELBW infants with fortified donor human milk can shorten the time to achieve enteral nutrition and reduce the use rate and time of PICC, the incidence of late-onset sepsis, and the times of red blood cell transfusion.

Objective To investigate the role of TLR4/NF-κB signal pathway in pathogenesis of brain inju-ry during deep hypothermia circulatory arrest(DHCA). Methods BV2 microglia cells were subjected to oxygen-glucose deprivation/reoxygenation(OGD/R),in vitro model for DHCA. The BV2 were randomly divided into the control group(C group)and the experimental group(O group). BV2 viability was determined by CCK-8 assay. TLR4 and its downstream signaling molecules ,MyD88 and phosphorylated NF-κB (p-p65) expressions were detected by Western blotting. TLR4 mRNA expression in BV2 microglial cells were determined by RT-PCR. Level of interleukin-6 (IL-6) and tumor necrosis factor alpha (TNF-α) in culture medium was detected by ELASA. Results Compared with the group C,BV2 microglia cell viability in experiment group was obviously weaker(P<0.05). Expressions of TLR4,MyD88 and phosphorylated NF-κB(p-p65)from the experiment group increased remarkedly than those from the group C (P < 0.05). TLR4 mRNA level was higher significantly in the group O than in the group C (P < 0.01). Production of IL-6 and TNF-α in the group O were up-regulated apparently compared to the group C(P<0.01). Conclusion TLR4/NF-κB signaling pathway contributed to activation of BV2 microglia cells treated by OGD/Reoxygenation ,which was probably the exactly way that involved in pathogenesis of brain injury during deep hypothermia circulatory arrest.

Humans ; COVID-19/genetics* ; SARS-CoV-2/genetics* ; Clustered Regularly Interspaced Short Palindromic Repeats/genetics* ; CRISPR-Cas Systems/genetics* ; RNA, Viral/genetics*